Variant report

Variant	rs34091220
Chromosome Location	chr2:113930658-113930659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113930203..113932925-chr2:113950004..113952772,2	K562	blood:
2	chr2:113919676..113922508-chr2:113929408..113931402,2	K562	blood:
3	chr2:113913826..113916797-chr2:113930139..113933348,3	K562	blood:

Variant related genes	Relation type
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11693483	1.00[ASN][1000 genomes]
rs11893620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902453	1.00[ASN][1000 genomes]
rs34461072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45560237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71416505	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113923000-113931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:113923000-113932200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:113923000-113956000	Weak transcription	HMEC	breast
6	chr2:113923200-113931600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:113923800-113931400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:113925200-113930800	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:113925400-113931000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:113926600-113931000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:113926600-113931000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:113926600-113932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:113926800-113930800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:113926800-113931000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:113926800-113931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:113926800-113931200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:113926800-113931600	Weak transcription	Esophagus	oesophagus
19	chr2:113927600-113936200	Weak transcription	NHEK	skin
20	chr2:113928000-113935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:113928400-113930800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:113928400-113931200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:113928600-113931000	Enhancers	HepG2	liver
24	chr2:113928600-113931200	Enhancers	Fetal Thymus	thymus
25	chr2:113928600-113931600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:113928800-113930800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:113929600-113932800	Enhancers	Stomach Mucosa	stomach
28	chr2:113930000-113930800	Enhancers	Primary B cells from cord blood	blood
29	chr2:113930000-113931000	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:113930000-113931000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:113930000-113931000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:113930000-113931200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:113930000-113931400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:113930200-113930800	Enhancers	Fetal Intestine Large	intestine
35	chr2:113930200-113930800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr2:113930200-113930800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:113930200-113931000	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:113930200-113931000	Enhancers	Spleen	Spleen
39	chr2:113930200-113931200	Enhancers	Thymus	Thymus
40	chr2:113930200-113931400	Enhancers	Liver	Liver
41	chr2:113930200-113931600	Enhancers	Colonic Mucosa	Colon
42	chr2:113930200-113931600	Enhancers	Placenta	Placenta
43	chr2:113930200-113931600	Enhancers	Gastric	stomach
44	chr2:113930200-113931600	Enhancers	Lung	lung
45	chr2:113930200-113935200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:113930400-113930800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:113930400-113930800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:113930400-113930800	Enhancers	Pancreas	Pancrea
49	chr2:113930400-113930800	Enhancers	GM12878-XiMat	blood
50	chr2:113930400-113931000	Enhancers	K562	blood

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